Related gene-specific medical variations for Gene (Select 111413029) - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3007610	NM_000353.3(TAT):c.409-17T>C	LOC111413029, TAT	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2915650	NM_000353.3(TAT):c.565T>C (p.Leu189=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2915232	NM_000353.3(TAT):c.463T>C (p.Leu155=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2899928	NM_000353.3(TAT):c.648del (p.Pro217fs)	LOC111413029, TAT +1 more (P217fs)	Deletion (non-coding transcript variant +1 more)	Tyrosinemia type II	GPathogenic
Select item 2888804	NM_000353.3(TAT):c.409-11T>G	TAT, LOC111413029	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2867329	NM_000353.3(TAT):c.444T>C (p.Ile148=)	TAT, LOC111413029	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2842752	NM_000353.3(TAT):c.454T>C (p.Leu152=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2828135	NM_000353.3(TAT):c.498A>G (p.Arg166=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2812405	NM_000353.3(TAT):c.706+7C>T	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 2806985	NM_000353.3(TAT):c.501T>A (p.Pro167=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2761805	NM_000353.3(TAT):c.568-7T>C	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 2759733	NM_000353.3(TAT):c.601C>T (p.Leu201=)	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 2757651	NM_000353.3(TAT):c.409-8C>G	LOC111413029, TAT	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2753040	NM_000353.3(TAT):c.567+19T>C	LOC111413029, TAT	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2740027	NM_000353.3(TAT):c.568-17C>T	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 2729508	NM_000353.3(TAT):c.474A>T (p.Pro158=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2703213	NM_000353.3(TAT):c.492T>C (p.Val164=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2702742	NM_000353.3(TAT):c.669A>G (p.Ser223=)	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 2694568	NM_000353.3(TAT):c.567+10T>C	LOC111413029, TAT	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2679101	NM_000353.3(TAT):c.440C>T (p.Ala147Val)	LOC111413029, TAT (A147V)	Single nucleotide variant (missense variant)	Tyrosinemia type II	GLikely pathogenic
Select item 2679100	NM_000353.3(TAT):c.599_603del (p.Gln200fs)	LOC111413029, TAT +1 more (Q200fs)	Deletion (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely pathogenic
Select item 2679099	NM_000353.3(TAT):c.706+2T>C	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely pathogenic
Select item 2161886	NM_000353.3(TAT):c.409-4A>G	LOC111413029, TAT	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 2091114	NM_000353.3(TAT):c.486C>T (p.Ile162=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 2080924	NM_000353.3(TAT):c.560A>G (p.Asn187Ser)	LOC111413029, TAT (N187S)	Single nucleotide variant (missense variant)	Tyrosinemia type II	GUncertain significance
Select item 1994439	NM_000353.3(TAT):c.447C>T (p.Asp149=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1976437	NM_000353.3(TAT):c.429C>T (p.Gly143=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1916208	NM_000353.3(TAT):c.409-18C>G	LOC111413029, TAT	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 1725893	NM_000353.3(TAT):c.680_692del (p.Lys227fs)	LOC111413029, TAT +1 more (K227fs)	Deletion (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely pathogenic
Select item 1724378	NM_000353.3(TAT):c.632_634delinsA (p.Cys211fs)	LOC111413029, TAT +1 more (C211fs)	Indel (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely pathogenic
Select item 1667396	NM_000353.3(TAT):c.606A>G (p.Glu202=)	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 1661925	NM_000353.3(TAT):c.570A>G (p.Pro190=)	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 1647057	NM_000353.3(TAT):c.501T>C (p.Pro167=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1643661	NM_000353.3(TAT):c.489G>T (p.Leu163=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1640856	NM_000353.3(TAT):c.648T>C (p.Asn216=)	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 1632371	NM_000353.3(TAT):c.594G>C (p.Leu198=)	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 1625488	NM_000353.3(TAT):c.525G>T (p.Leu175=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1612592	NM_000353.3(TAT):c.522T>G (p.Thr174=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1606895	NM_000353.3(TAT):c.597A>G (p.Lys199=)	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 1592701	NM_000353.3(TAT):c.567+19T>A	LOC111413029, TAT	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 1581342	NM_000353.3(TAT):c.483C>T (p.Asn161=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1577991	NM_000353.3(TAT):c.568-9T>C	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 1576492	NM_000353.3(TAT):c.603G>A (p.Leu201=)	TAT-AS1, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 1569232	NM_000353.3(TAT):c.567+8A>G	LOC111413029, TAT	Single nucleotide variant (intron variant)	Tyrosinemia type II	GLikely benign
Select item 1563753	NM_000353.3(TAT):c.706+10G>A	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 1539587	NM_000353.3(TAT):c.531G>A (p.Glu177=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	TAT-related condition +1 more	GLikely benign
Select item 1537400	NM_000353.3(TAT):c.567+19_567+20delinsATTTTAATCATTTTTAATCATTTTAATCATTTTAATTTTTTAAATTAATCATTTAATTTAATCATTTAATTAAATTAATCATTTAATCATTTAATCATTTTAATTTCCA	LOC111413029, TAT	Indel (intron variant)	Tyrosinemia type II	GLikely benign
Select item 1486969	NM_000353.3(TAT):c.441T>C (p.Ala147=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1405762	NM_000353.3(TAT):c.548T>C (p.Val183Ala)	LOC111413029, TAT (V183A)	Single nucleotide variant (missense variant)	Tyrosinemia type II	GUncertain significance
Select item 1378408	NM_000353.3(TAT):c.556T>C (p.Tyr186His)	LOC111413029, TAT (Y186H)	Single nucleotide variant (missense variant)	Tyrosinemia type II	GLikely pathogenic
Select item 1350262	NM_000353.3(TAT):c.582G>A (p.Trp194Ter)	LOC111413029, TAT +1 more (W194*)	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GPathogenic
Select item 1291613	NM_000353.3(TAT):c.567+23A>G	LOC111413029, TAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248780	NM_000353.3(TAT):c.409-125T>G	LOC111413029, TAT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1158550	NM_000353.3(TAT):c.660C>T (p.Pro220=)	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 1152861	NM_000353.3(TAT):c.555C>G (p.Leu185=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1129241	NM_000353.3(TAT):c.663T>C (p.Cys221=)	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 1117537	NM_000353.3(TAT):c.471C>T (p.Asn157=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1100499	NM_000353.3(TAT):c.669A>C (p.Ser223=)	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 1099137	NM_000353.3(TAT):c.438A>G (p.Gln146=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 1097687	NM_000353.3(TAT):c.592C>T (p.Leu198=)	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 1083380	NM_000353.3(TAT):c.594G>T (p.Leu198=)	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 1056911	NM_000353.3(TAT):c.683G>C (p.Arg228Pro)	LOC111413029, TAT +1 more (R228P)	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GUncertain significance
Select item 1029798	NM_000353.3(TAT):c.623A>T (p.Lys208Met)	LOC111413029, TAT +1 more (K208M)	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GUncertain significance
Select item 971172	NM_000353.3(TAT):c.564G>T (p.Leu188Phe)	LOC111413029, TAT (L188F)	Single nucleotide variant (missense variant)	Tyrosinemia type II	GUncertain significance
Select item 887434	NM_000353.3(TAT):c.464T>C (p.Leu155Ser)	LOC111413029, TAT (L155S)	Single nucleotide variant (missense variant)	Tyrosinemia type II	GUncertain significance
Select item 887433	NM_000353.3(TAT):c.618T>G (p.Asp206Glu)	LOC111413029, TAT +1 more (D206E)	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GUncertain significance
Select item 798402	NM_000353.3(TAT):c.687T>C (p.His229=)	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely benign
Select item 796668	NM_000353.3(TAT):c.528T>C (p.Ala176=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 765977	NM_000353.3(TAT):c.411C>T (p.Asp137=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 746502	NM_000353.3(TAT):c.426T>C (p.Ser142=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GLikely benign
Select item 665810	NM_000353.3(TAT):c.578C>A (p.Ser193Tyr)	LOC111413029, TAT +1 more (S193Y)	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GUncertain significance
Select item 552516	NM_000353.3(TAT):c.568-2A>G	LOC111413029, TAT +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GLikely pathogenic
Select item 432002	NM_000353.3(TAT):c.452G>A (p.Cys151Tyr)	LOC111413029, TAT (C151Y)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 320411	NM_000353.3(TAT):c.558C>T (p.Tyr186=)	LOC111413029, TAT	Single nucleotide variant (synonymous variant)	Tyrosinemia type II	GConflicting classifications of pathogenicity
Select item 320410	NM_000353.3(TAT):c.614T>C (p.Ile205Thr)	LOC111413029, TAT +1 more (I205T)	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GUncertain significance
Select item 403	NM_000353.3(TAT):c.668C>G (p.Ser223Ter)	LOC111413029, TAT +1 more (S223*)	Single nucleotide variant (non-coding transcript variant +1 more)	Tyrosinemia type II	GPathogenic

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Items: 76